Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TMEM218 Gene

Aliases for TMEM218 Gene

  • Transmembrane Protein 218 2 3 5

External Ids for TMEM218 Gene

Previous GeneCards Identifiers for TMEM218 Gene

  • GC11M124472
  • GC11M124966
  • GC11M120908

Summaries for TMEM218 Gene

GeneCards Summary for TMEM218 Gene

TMEM218 (Transmembrane Protein 218) is a Protein Coding gene. Diseases associated with TMEM218 include Meckel Syndrome 1 and Joubert Syndrome 1.

UniProtKB/Swiss-Prot for TMEM218 Gene

  • May be involved in ciliary biogenesis or function.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM218 Gene

Genomics for TMEM218 Gene

Regulatory Elements for TMEM218 Gene

Enhancers for TMEM218 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G125068 2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +39.4 39372 8.2 HDGF PKNOX1 FOXA2 CREB3L1 MLX ARNT WRNIP1 ZFP64 ARID4B FOS SLC37A2 CCDC15 TMEM218 KRT18P59 ENSG00000255475 ROBO4 HEPACAM TBRG1 GC11M125054 PIR45309
GH11G125090 1.3 Ensembl ENCODE dbSUPER 10.6 +20.2 20245 1.4 ELF3 CTCF ARNT CEBPG ZNF2 RAD21 YY1 FOSL1 SMC3 ZSCAN29 SLC37A2 ENSG00000255475 KRT18P59 TMEM218 GC11P125088
GH11G125624 1.2 ENCODE 10.8 -514.3 -514308 3.4 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 FEZ1 CHEK1 TMEM218 MSANTD2 ACRV1 PUS3 RNU2-35P
GH11G125568 1.1 ENCODE 9.8 -458.3 -458273 2.5 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 FEZ1 TIRAP HP11014 STT3A TMEM218 DDX25 PUS3 RNU6-1156P EI24
GH11G125082 1.6 Ensembl ENCODE dbSUPER 5.8 +28.6 28592 2.1 HDGF PKNOX1 ARNT ARID4B DMAP1 FEZF1 YY1 SLC30A9 ZNF143 FOS TMEM218 ROBO3 GC11P125080 GC11P125088
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM218 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM218 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000046478 263 1401 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143 FOS SP3

Genomic Location for TMEM218 Gene

Chromosome:
11
Start:
125,094,370 bp from pter
End:
125,111,763 bp from pter
Size:
17,394 bases
Orientation:
Minus strand

Genomic View for TMEM218 Gene

Genes around TMEM218 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM218 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM218 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM218 Gene

Proteins for TMEM218 Gene

  • Protein details for TMEM218 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A2RU14-TM218_HUMAN
    Recommended name:
    Transmembrane protein 218
    Protein Accession:
    A2RU14
    Secondary Accessions:
    • B7ZM48

    Protein attributes for TMEM218 Gene

    Size:
    115 amino acids
    Molecular mass:
    12459 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMEM218 Gene

Post-translational modifications for TMEM218 Gene

No Post-translational modifications

No data available for DME Specific Peptides for TMEM218 Gene

Domains & Families for TMEM218 Gene

Protein Domains for TMEM218 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM218 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A2RU14

UniProtKB/Swiss-Prot:

TM218_HUMAN :
  • Belongs to the TMEM218 family.
Family:
  • Belongs to the TMEM218 family.
genes like me logo Genes that share domains with TMEM218: view

No data available for Gene Families for TMEM218 Gene

Function for TMEM218 Gene

Molecular function for TMEM218 Gene

UniProtKB/Swiss-Prot Function:
May be involved in ciliary biogenesis or function.

Gene Ontology (GO) - Molecular Function for TMEM218 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TMEM218: view
genes like me logo Genes that share phenotypes with TMEM218: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM218

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM218 Gene

Localization for TMEM218 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM218 Gene

Membrane; Multi-pass membrane protein. Cell projection, cilium. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250 UniProtKB:Q9CQ44}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM218 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for TMEM218 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with TMEM218: view

Pathways & Interactions for TMEM218 Gene

SuperPathways for TMEM218 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM218 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM218 Gene

Drugs & Compounds for TMEM218 Gene

No Compound Related Data Available

Transcripts for TMEM218 Gene

Unigene Clusters for TMEM218 Gene

Transmembrane protein 218:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM218 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e · 5f · 5g
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: - - - -
SP5: - -
SP6:
SP7:

Relevant External Links for TMEM218 Gene

GeneLoc Exon Structure for
TMEM218
ECgene alternative splicing isoforms for
TMEM218

Expression for TMEM218 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM218 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of TMEM218 Gene:

TMEM218

SOURCE GeneReport for Unigene cluster for TMEM218 Gene:

Hs.7626

Evidence on tissue expression from TISSUES for TMEM218 Gene

  • Nervous system(2.3)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with TMEM218: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM218 Gene

Orthologs for TMEM218 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM218 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM218 34 35
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia TMEM218 34 35
  • 85.51 (n)
cow
(Bos Taurus)
Mammalia TMEM218 34 35
  • 83.77 (n)
mouse
(Mus musculus)
Mammalia Tmem218 34 16 35
  • 82.16 (n)
rat
(Rattus norvegicus)
Mammalia Tmem218 34
  • 82.16 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM218 35
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM218 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem218 34
  • 63.69 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem218 34 35
  • 60.29 (n)
-- 34
Species where no ortholog for TMEM218 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM218 Gene

ENSEMBL:
Gene Tree for TMEM218 (if available)
TreeFam:
Gene Tree for TMEM218 (if available)

Paralogs for TMEM218 Gene

No data available for Paralogs for TMEM218 Gene

Variants for TMEM218 Gene

Sequence variations from dbSNP and Humsavar for TMEM218 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000144609 -- 125,098,319(+) GGATA(A/G)GTAAC intron-variant
rs1000608702 -- 125,096,500(+) TTTCT(A/G)CTTTA nc-transcript-variant, utr-variant-3-prime
rs1000713991 -- 125,102,729(+) TGTGA(C/T)TCACC intron-variant, nc-transcript-variant, utr-variant-5-prime
rs1000743194 -- 125,109,915(+) CCCCC(G/T)TAGTA intron-variant
rs1000768039 -- 125,102,422(+) TAATT(C/T)TCAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM218 Gene

Variant ID Type Subtype PubMed ID
esv24623 CNV loss 19812545
nsv527157 CNV loss 19592680

Variation tolerance for TMEM218 Gene

Residual Variation Intolerance Score: 59.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.45; 9.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM218 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM218

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM218 Gene

Disorders for TMEM218 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TMEM218 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
meckel syndrome 1
  • meckel syndrome
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMEM218

Genetic Association Database (GAD)
TMEM218
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM218
genes like me logo Genes that share disorders with TMEM218: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM218 Gene

Publications for TMEM218 Gene

  1. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for TMEM218 Gene

Sources for TMEM218 Gene

Content
Loading form....